Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Abstract

Background: Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). Results: Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25, 47 and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for "permanent ventilation," "non-sitters," "sitters," "walk with support," and "walk alone." WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. Conclusions: This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a posttreatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMAspecific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

Eliciting health state utilities for Aromatic L-amino Acid Decarboxylase (AADC) deficiency: a UK vignette study

“…The results for the parental/caregiver HRQoL demonstrated that the vast majority of participants (drawn from the general population) considered AADC deficiency to have a significant negative impact on individuals and families caring for these patients. This concurs with studies on other rare medical conditions which have highlighted the considerable caregiver burden both in terms of HRQoL, as well as household budgets [ 19 , 20 ].…”

“…Health state utilities increased as severity of symptoms decreased, and as various motor milestones improved. In addition to AADC deficiency, the results may also provide beneficial insights for deriving health (state) utilities in other rare conditions such as spinal muscular atrophy (SMA) where similar difficulties may be encountered [ 19 ]. For AADC deficiency, and particularly the health state utilities, further research is required to determine the exact drivers in terms of the symptoms and milestones impacting the most on the health state utilities.…”

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

“…So, NGS is an efficient, accurate, and cost-effective method for identifying disease genes. For clinically and genetically heterogeneous diseases caused by a group of genes involving a common metabolic pathway, TGS can also be used for simultaneous sequencing of the group of candidate genes [ 14 ]. Our case demonstrates that molecular analysis especially using TGS is an essential method in the diagnosis of GSD subtypes.…”

Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

“…Our case shows that molecular analysis (especially using TGS) is an important method to diagnose GSD subtypes. Early genetic diagnosis of TGS has many benefits, including time- and cost-effectiveness, correct treatment, accurate recurrence risk recommendations, and screening of the patients where appropriate [ 18 ]. Unfortunately, we do not have the genetic analysis of parents and expired brother to determine whether the expired brother had the same mutation or not.…”